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The evolution of Sex-linked barring alleles in chickens involves both regulatory and coding changes in CDKN2A
Swedish Univ Agr Sci, Dept Anim Breeding & Genet, Uppsala, Sweden.;Univ Paris Saclay, GABI, INRA, AgroParisTech, F-78350 Jouy En Josas, France..
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Developmental Neuroscience.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology. Uppsala University, Science for Life Laboratory, SciLifeLab.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology. Uppsala University, Science for Life Laboratory, SciLifeLab.
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2017 (English)In: PLoS Genetics, ISSN 1553-7390, E-ISSN 1553-7404, Vol. 13, no 4, e1006665Article in journal (Refereed) Published
Abstract [en]

Sex-linked barring is a fascinating plumage pattern in chickens recently shown to be associated with two non-coding and two missense mutations affecting the ARF transcript at the CDKN2A tumor suppressor locus. It however remained a mystery whether all four mutations are indeed causative and how they contribute to the barring phenotype. Here, we show that Sex-linked barring is genetically heterogeneous, and that the mutations form three functionally different variant alleles. The B0 allele carries only the two non-coding changes and is associated with the most dilute barring pattern, whereas the B1 and B2 alleles carry both the two non-coding changes and one each of the two missense mutations causing the Sex-linked barring and Sex-linked dilution phenotypes, respectively. The data are consistent with evolution of alleles where the non-coding changes occurred first followed by the two missense mutations that resulted in a phenotype more appealing to humans. We show that one or both of the non-coding changes are cis-regulatory mutations causing a higher CDKN2A expression, whereas the missense mutations reduce the ability of ARF to interact with MDM2. Caspase assays for all genotypes revealed no apoptotic events and our results are consistent with a recent study indicating that the loss of melanocyte progenitors in Sex-linked barring in chicken is caused by premature differentiation and not apoptosis. Our results show that CDKN2A is a major locus driving the differentiation of avian melanocytes in a temporal and spatial manner.

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PUBLIC LIBRARY SCIENCE , 2017. Vol. 13, no 4, e1006665
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Genetics
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URN: urn:nbn:se:uu:diva-327066DOI: 10.1371/journal.pgen.1006665ISI: 000402549200008OAI: oai:DiVA.org:uu-327066DiVA: diva2:1129219
Available from: 2017-08-01 Created: 2017-08-01 Last updated: 2017-08-01Bibliographically approved

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Ring, HenrikSundström, ElisabethCao, XiaofangLarsson, MårtenKerje, SusanneJemth, PerHallböök, FinnAndersson, Leif
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Developmental NeuroscienceDepartment of Medical Biochemistry and MicrobiologyScience for Life Laboratory, SciLifeLab
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